[The association between polymorphism of endothelial nitric oxide synthase gene and diabetic nephropathy]

Zhonghua Nei Ke Za Zhi. 2001 Nov;40(11):729-32.
[Article in Chinese]


Objective: To investigate the association between a 894 G-->T mutation at exon 7 and a 27 base pair(bp) repeat polymorphism in intron 4 of the eNOS gene and diabetic nephropathy in Chinese.

Methods: A case control study of 228 Chinese subjects (including 143 type 2 diabetes mellitus with or without nephropathy and 85 normal controls) was performed. The number of 894 G-->T mutation allele and 27 bp repeat polymorhism alleles were determined by polymerasechain reaction restriction fragment lenth polymorphism(PCR-RFLP) method and PCR combined with 4% agarose electrophoresis.

Results: The frequency of the T allele and TG genotype at exon 7 and the a allele and ab genotype in intron 4 were significantly higher in diabetic nephropathy positive (DN+) group than in diabetic nephropathy negative (DN-) group and control subjects(P < 0.05). Diabetic patients with coexistence of the T and a alleles had a higher incidence of diabetic nephropathy(P < 0.05) than those with only one of the two alleles or without any of the two alleles. Multivariate logistic regression analysis showed that blood glucose, GHbA1c, SBP, TC, 894 G-->T mutation at exon 7 and a 27 base pair(bp) repeat polymorphism in intron 4 of the eNOS gene are independent risk factors for diabetic nephropathy.

Conclusions: The T allele at exon 7 and a allele in intron 4 are related to diabetic nephropathy in Chinese patients with type with 2 diabetes mellitus. The incidence of diabetic nephropathy is higher in patients who have both T and a alleles than patients who have either T or a allele alone.

Publication types

  • Comparative Study
  • English Abstract

MeSH terms

  • Aged
  • Case-Control Studies
  • Diabetes Mellitus / genetics
  • Diabetic Nephropathies / genetics*
  • Endothelium / cytology
  • Exons
  • Female
  • Gene Frequency*
  • Genotype
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Nitric Oxide Synthase / genetics*
  • Nitric Oxide Synthase Type III
  • Point Mutation
  • Polymorphism, Genetic*


  • NOS3 protein, human
  • Nitric Oxide Synthase
  • Nitric Oxide Synthase Type III